Medical Q&As

Alpha-1 antitrypsin deficiency - liver effects?

I would like to know about alpha-1 disease in the liver.

Alpha-1 is known by several names including alpha-1 antitrypsin deficiency or AAT deficiency. It is an inherited disorder and is the most common genetic cause of liver disease in children and is also the most common genetic cause of emphysema in adults. The disorder has been identified in many populations throughout the world but it is most common in northern Europe and in the Iberian Peninsula, which includes Spain and Portugal. Alpha-1 antitrypsin is a protein that is made in the liver and released from there into the bloodstream. If a person is deficient in this protein certain compounds can accumulate in the liver causing damage to that organ. In some cases the signs of deficiency may not be apparent during early childhood and experience has shown that it is very difficult to predict the course of the disease in an individual child. In some cases the condition may not become manifest until adolescence or early adulthood. The disease may manifest itself through hepatitis or inflammation of the liver, enlargement of the spleen or fluid in the abdomen, which is known as ascites. There is no specific treatment for the disease. Management of the disease can range from nutritional supplements up to transplantation of the liver depending on the severity of the damage to the liver. As mentioned previously alpha-1 deficiency can also give rise to emphysema, which can accelerate very rapidly if the affected person is a smoker.